InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ACTN2

Summary

InnateDB Gene

IDBG-107634.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACTN2

Gene Name

actinin, alpha 2

Synonyms

CMD1AA

Species

Homo sapiens

Ensembl Gene

ENSG00000077522

Encoded Proteins

IDBP-107636

actinin, alpha 2

IDBP-583655

actinin, alpha 2

IDBP-599082

actinin, alpha 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. [provided by RefSeq, Jul 2008]
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:236686454-236764631

Strand

Forward strand

Band

q43

Transcripts

ENST00000366578	ENSP00000355537
ENST00000492634
ENST00000494762
ENST00000492101
ENST00000461367
ENST00000542672	ENSP00000443495
ENST00000546208	ENSP00000438384

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 72 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	72 [view]
Protein-Protein	72 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding
GO:0008307	structural constituent of muscle
GO:0030274	LIM domain binding
GO:0030374	ligand-dependent nuclear receptor transcription coactivator activity
GO:0030375	thyroid hormone receptor coactivator activity
GO:0031432	titin binding
GO:0042802	identical protein binding
GO:0044325	ion channel binding
GO:0046983	protein dimerization activity
GO:0051015	actin filament binding
GO:0051373	FATZ binding
GO:0070080	titin Z domain binding

Biological Process

GO:0002576	platelet degranulation
GO:0006936	muscle contraction
GO:0007155	cell adhesion
GO:0007268	synaptic transmission
GO:0007596	blood coagulation
GO:0030035	microspike assembly
GO:0030049	muscle filament sliding
GO:0030168	platelet activation
GO:0042391	regulation of membrane potential
GO:0042981	regulation of apoptotic process
GO:0043267	negative regulation of potassium ion transport
GO:0043268	positive regulation of potassium ion transport
GO:0048041	focal adhesion assembly
GO:0051289	protein homotetramerization
GO:1901017	negative regulation of potassium ion transmembrane transporter activity
GO:1901018	positive regulation of potassium ion transmembrane transporter activity
GO:2000009	negative regulation of protein localization to cell surface
GO:2000273	positive regulation of receptor activity
GO:2001141	regulation of RNA biosynthetic process

Cellular Component

GO:0005576	extracellular region
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005884	actin filament
GO:0005925	focal adhesion
GO:0030017	sarcomere
GO:0030018	Z disc
GO:0030175	filopodium
GO:0030864	cortical actin cytoskeleton
GO:0031093	platelet alpha granule lumen
GO:0031143	pseudopodium
GO:0043197	dendritic spine
GO:0070062	extracellular vesicular exosome